A 11.7-kb deletion triggers intersexuality and polledness in goats (original) (raw)

Nature Genetics volume 29, pages 453–458 (2001)Cite this article

Abstract

Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome1. Familial cases of _SRY_-negative XX sex reversal are rare in humans, often hampering the discovery of new sex-determining genes2,3. The mouse model is also insufficient to correctly apprehend the sex-determination cascade, as the human pathway is much more sensitive to gene dosage4,5,6. Other species might therefore be considered in this respect7. In goats, the polled intersex syndrome (PIS) mutation associates polledness and intersexuality8,9. The sex reversal affects exclusively the XX individuals in a recessive manner, whereas the absence of horns is dominant in both sexes. The syndrome is caused by an autosomal gene located at chromosome band 1q43 (ref. 9), shown to be homologous to human chromosome band 3q23 (ref. 10). Through a positional cloning approach, we demonstrate that the mutation underlying PIS is the deletion of a critical 11.7-kb DNA element containing mainly repetitive sequences. This deletion affects the transcription of at least two genes: PISRT1, encoding a 1.5-kb mRNA devoid of open reading frame (ORF), and FOXL2, recently shown to be responsible for blepharophimosis ptosis epicanthus inversus syndrome (BPES) in humans11. These two genes are located 20 and 200 kb telomeric from the deletion, respectively.

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Acknowledgements

The authors wish to acknowledge the work of R. Faugeras for sequencing and the excellent technical assistance of B. Jego. We thank J. Hervieu and J.F. Alkombre for help with goat breeding and management. We wish to acknowledge J.L. Vilotte for critical reading of the manuscript. This work was carried out with INRA AIP grants “Sex autosomal determination in goats and pigs” and “Genome and function”.

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Author notes

  1. Eric Pailhoux and Daniel Vaiman: These authors contributed equally to the experimental part of this work.

Authors and Affiliations

  1. Département de Physiologie Animale INRA, Laboratoire de Biologie du Développement et Biotechnologies, Centre de Recherches de Jouy-en-Josas, Jouy-en-Josas, 78352, Paris, France
    Eric Pailhoux, Bernard Vigier, Nathalie Servel & Corinne Cotinot
  2. Département de Génétique Animale, Laboratoire de Génétique biochimique et de Cytogénétique, INRA, Centre de Recherches de Jouy-en-Josas, Jouy-en-Josas, 78352, Paris, France
    Stéphane Chaffaux, Sead Taourit, Jean-Pierre Furet, François Grosclaude, Edmond P. Cribiu & Daniel Vaiman
  3. Laboratoire d'Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr. Roux, 75015, Paris, France
    Marc Fellous

Authors

  1. Eric Pailhoux
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  2. Bernard Vigier
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  3. Stéphane Chaffaux
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  4. Nathalie Servel
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  5. Sead Taourit
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  6. Jean-Pierre Furet
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  7. Marc Fellous
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  8. François Grosclaude
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  9. Edmond P. Cribiu
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  10. Corinne Cotinot
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  11. Daniel Vaiman
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Correspondence toDaniel Vaiman.

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Pailhoux, E., Vigier, B., Chaffaux, S. et al. A 11.7-kb deletion triggers intersexuality and polledness in goats.Nat Genet 29, 453–458 (2001). https://doi.org/10.1038/ng769

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